Variant report

Variant	rs11227786
Chromosome Location	chr11:67176368-67176369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr11:67176346-67177251	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:67176203-67178342	NB4	blood:	n/a	n/a
3	POLR2A	chr11:67175796-67179861	HL-60	blood:	n/a	n/a
4	MTA3	chr11:67175100-67179965	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:67176221-67179699	GM12891	blood:	n/a	n/a
6	STAT5A	chr11:67176054-67178296	GM12878	blood:	n/a	chr11:67176338-67176350 chr11:67176192-67176204 chr11:67177642-67177654 chr11:67176831-67176839 chr11:67177842-67177854
7	NFATC1	chr11:67176031-67176503	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:67176348-67176387	H1-hESC	embryonic stem cell:	n/a	n/a
9	ELF1	chr11:67176224-67177924	GM12878	blood:	n/a	n/a
10	MYC	chr11:67176306-67177868	NB4	blood:	n/a	chr11:67176436-67176446 chr11:67177646-67177656
11	POLR2A	chr11:67175692-67179867	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:67176168-67179252	HL-60	blood:	n/a	n/a
13	POLR2A	chr11:67176013-67179736	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:67175740-67178488	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:67176247-67177099	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:67175964-67177109	GM18505	blood:	n/a	n/a
17	RUNX3	chr11:67176081-67177459	GM12878	blood:	n/a	chr11:67176253-67176270
18	MAX	chr11:67176286-67177860	NB4	blood:	n/a	chr11:67176436-67176446 chr11:67177646-67177656
19	POLR2A	chr11:67176293-67178650	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:67176190-67179080	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:67176267-67178157	GM12878	blood:	n/a	n/a
22	RUNX3	chr11:67176181-67177193	GM12878	blood:	n/a	chr11:67176253-67176270
23	POLR2A	chr11:67176214-67177148	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67175295..67177468-chr11:67274003..67276174,2	MCF-7	breast:
2	chr11:67172860..67176369-chr11:67201428..67204494,3	K562	blood:
3	chr11:67174480..67177168-chr11:67249396..67252040,3	MCF-7	breast:
4	chr11:67175789..67179239-chr11:67234277..67236634,3	MCF-7	breast:
5	chr11:67174351..67176822-chr11:67262418..67264018,2	K562	blood:
6	chr11:67175949..67181191-chr11:67230601..67234346,6	K562	blood:

Variant related genes	Relation type
PPP1CA	TF binding region
ENSG00000110711	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172663	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11227720	0.83[AFR][1000 genomes]
rs11227722	0.83[AFR][1000 genomes]
rs11227750	0.81[ASN][1000 genomes]
rs11227752	0.81[ASN][1000 genomes]
rs11227761	0.81[ASN][1000 genomes]
rs11227765	0.81[ASN][1000 genomes]
rs11227768	0.81[ASN][1000 genomes]
rs11227770	0.81[ASN][1000 genomes]
rs11227787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223898	0.81[ASN][1000 genomes]
rs12274774	0.81[ASN][1000 genomes]
rs17879849	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3730145	0.81[ASN][1000 genomes]
rs60969594	0.87[EUR][1000 genomes]
rs61758508	0.81[ASN][1000 genomes]
rs61889551	0.81[ASN][1000 genomes]
rs61889552	0.81[ASN][1000 genomes]
rs61891340	0.83[AFR][1000 genomes]
rs61891343	0.83[AFR][1000 genomes]
rs61891586	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61891588	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61891589	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61891590	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61891592	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7127431	0.81[ASN][1000 genomes]
rs9630209	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
9	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
10	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
11	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
12	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
13	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
15	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
16	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
19	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
22	nsv897812	chr11:67174597-67198887	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
23	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
24	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67169800-67176800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:67169800-67177800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:67169800-67178000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:67170000-67177200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:67170000-67177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:67170000-67182800	Weak transcription	Right Atrium	heart
7	chr11:67170200-67176600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:67171000-67176800	Weak transcription	Lung	lung
9	chr11:67171000-67177200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:67171400-67176600	Weak transcription	Left Ventricle	heart
11	chr11:67171400-67177400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:67171600-67177200	Weak transcription	Pancreas	Pancrea
13	chr11:67171600-67177800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
14	chr11:67172200-67177200	Weak transcription	Gastric	stomach
15	chr11:67172400-67176800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:67172400-67177800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:67172400-67177800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
18	chr11:67172400-67177800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:67172400-67178000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr11:67172600-67177200	Weak transcription	Hela-S3	cervix
21	chr11:67172600-67177600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:67172600-67177800	Weak transcription	K562	blood
23	chr11:67172600-67178400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr11:67172800-67176400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
25	chr11:67172800-67176800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:67172800-67177400	Genic enhancers	Spleen	Spleen
27	chr11:67173400-67177200	Weak transcription	Fetal Intestine Small	intestine
28	chr11:67173800-67176800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr11:67173800-67177800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:67173800-67177800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:67173800-67178400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
32	chr11:67173800-67181000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr11:67174000-67176600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:67174000-67182200	Enhancers	Brain Hippocampus Middle	brain
35	chr11:67174200-67177800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr11:67174200-67177800	Enhancers	Brain Substantia Nigra	brain
37	chr11:67174200-67181200	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:67174400-67179200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:67174400-67181200	Enhancers	Brain Angular Gyrus	brain
40	chr11:67174400-67181400	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr11:67174600-67176600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:67174600-67176800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:67174600-67176800	Enhancers	HSMMtube	muscle
44	chr11:67174600-67177600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
45	chr11:67175000-67178200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr11:67175200-67177400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
47	chr11:67175400-67177200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:67175400-67177400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:67175400-67177800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr11:67175400-67181200	Enhancers	Brain Anterior Caudate	brain

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